A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065279



Internal ID18807810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:49468523..49512116hg38UCSC Ensembl
Innerchr18:46994893..47038486hg19UCSC Ensembl
Innerchr18:45248891..45292484hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3843594
hg1943594
hg1843594
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3565440
Samples
Known GenesC18orf32, MIR1539, RPL17, RPL17-C18orf32, SNORD58A, SNORD58B, SNORD58C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065279
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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